The present invention relates to a nucleic acid molecule encoding a
(poly)peptide co-segregating in mutated form with Autoimmune
Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). In
addition, the invention relates to a mammalian, preferably murine,
homologue of the above nucleic acid molecule. The present invention
further relates to a nucleic acid molecule deviating by at least one
mutation from the nucleic acid molecule described above wherein said
mutation co-segregates with APECED and is an insertion, a deletion, a
substitution and/or an inversion, and wherein said mutation further
results in a loss or a gain of function of the (poly)peptide encoded by
said mutated nucleic acid molecule. Furthermore, the present invention
relates to a vector comprising the nucleic acid molecules described above
and to a host transformed with said vector. In addition, the present
invention relates to a process of recombinantly producing a (poly)peptide
encoded by the nucleic acid molecules described above comprising
culturing or raising said host and isolating said (poly)peptide from said
culture or said host. The present invention further relates to the
(poly)peptide encoded by said nucleic acid molecules or produced by the
process described above. Additionally, the present invention relates to
an antibody that specifically recognizes said (poly)peptides. Moreover,
the present invention relates to a method for testing for a carriership
for APECED or for a corresponding disease state comprising testing a
sample obtained from a prospective patient or from a person suspected of
carrying a predisposition for a mutation in the wild-type nucleic acid
molecule described above or a mutated form of the (poly)peptide encoded
by said mutated nucleic acid molecule in an immuno-assay using the
antibody described above.